Canonical Allele Identifier: CA387512469

Gene: SACS

Linked Data

• dbSNP Id: rs1223152492
• gnomAD v2: 13-23907693-A-T
• MyVariant Identifiers: chr13:g.23907693A>T (hg19) ; chr13:g.23333554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333554A>T , CM000675.2:g.23333554A>T	GRCh38
NC_000013.10:g.23907693A>T , CM000675.1:g.23907693A>T	GRCh37
NC_000013.9:g.22805693A>T	NCBI36
NG_012342.1:g.105149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20231T>A	ENSP00000508399.1:n.2185+20231T>A
ENST00000682944.1:c.10349T>A	ENSP00000507173.1:p.Val3450Glu
ENST00000683210.1:c.2185+20231T>A	ENSP00000506739.1:n.2185+20231T>A
ENST00000683270.1:c.6445+3868T>A	ENSP00000507624.1:n.6445+3868T>A
ENST00000683367.1:c.2177-4070T>A	ENSP00000507780.1:n.2177-4070T>A
ENST00000683489.1:c.2292-3602T>A	ENSP00000508403.1:n.2292-3602T>A
ENST00000683680.1:c.2319-3602T>A	ENSP00000507223.1:n.2319-3602T>A
ENST00000684163.1:c.2204-4070T>A	ENSP00000508262.1:n.2204-4070T>A
ENST00000684196.1:n.4543-4070T>A
ENST00000684325.1:c.2186-11880T>A	ENSP00000508121.1:n.2186-11880T>A
ENST00000684385.1:c.2221-4070T>A	ENSP00000507855.1:n.2221-4070T>A
ENST00000684497.1:c.2186-10910T>A	ENSP00000507057.1:n.2186-10910T>A
ENST00000382292.9:c.10322T>A MANE Select	ENSP00000371729.3:p.Val3441Glu
ENST00000423156.2:c.2186-4070T>A	ENSP00000390925.2:n.2186-4070T>A
ENST00000455470.6:c.2432-4070T>A	ENSP00000406565.2:n.2432-4070T>A
ENST00000382292.7:c.10322T>A	ENSP00000371729.3:p.Val3441Glu
ENST00000382298.7:c.10322T>A	ENSP00000371735.3:p.Val3441Glu
ENST00000402364.1:c.8072T>A	ENSP00000385844.1:p.Val2691Glu
ENST00000423156.1:c.1058-4070T>A	ENSP00000390925.1:n.1058-4070T>A
ENST00000455470.5:c.2130-4070T>A
NM_001278055.1:c.9881T>A	NP_001264984.1:p.Val3294Glu
NM_014363.5:c.10322T>A	NP_055178.3:p.Val3441Glu
XM_005266338.1:c.10349T>A	XP_005266395.1:p.Val3450Glu
XM_011535038.1:c.10373T>A	XP_011533340.1:p.Val3458Glu
XM_011535039.1:c.10340T>A	XP_011533341.1:p.Val3447Glu
XM_005266338.2:c.10349T>A	XP_005266395.1:p.Val3450Glu
XM_011535039.2:c.10340T>A	XP_011533341.1:p.Val3447Glu
XM_017020539.1:c.10313T>A	XP_016876028.1:p.Val3438Glu
XM_024449337.1:c.10349T>A	XP_024305105.1:p.Val3450Glu
NM_014363.6:c.10322T>A MANE Select	NP_055178.3:p.Val3441Glu
NM_001278055.2:c.9881T>A	NP_001264984.1:p.Val3294Glu